Varaico: Literature-Extracted Genetic Variants

CFTR

9,737 papers

RefSeq Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and co...

Pfam Domains

ABC_membraneaa 81–350UCSCABC transporter transmembrane region

ABC_tranaa 441–576UCSCABC transporter

CFTR_Raa 639–849UCSCCystic fibrosis TM conductance regulator (CFTR), regulator domain

ABC_membraneaa 862–1147UCSCABC transporter transmembrane region

ABC_tranaa 1227–1374UCSCABC transporter

Gene Aliases

HGNC Name

CF transmembrane conductance regulator

HGNC Previous Symbols

CF; ABCC7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000492.4

p.V43L

c.127G>C

Surrounding Variants

6 papers

NM_000492.4

p.V43I

c.127G>A

1 paper

NM_000492.4

p.V43_D44insT

c.127_131ins3

1 paper

NM_000492.4

p.V43D

c.128T>A

9 papers

NM_000492.4

p.V43A

c.128T>C

1 paper

NM_000492.4

p.S42S

c.126T>C

1 paper

NM_000492.4

p.D44_S45del2

c.130_134del6

2 papers

NM_000492.4

p.S42Y

c.125C>A

30 papers

NM_000492.4

p.S42F

c.125C>T

1 paper

NM_000492.4

p.S42_V43delFs

c.126_129del4

1 paper

NM_000492.4

p.D44delFs

c.130delG

1 paper

NM_000492.4

p.D44N

c.130G>A

1 paper

NM_000492.4

p.D44fs

c.130_131fs